Late presentation of Ellis van Creveld Syndrome with Common atrium - PDF document

Journal of Advances in Internal Medicine | Case Report Late presentation of Ellis van Creveld Syndrome with Common atrium anomaly: A case report in a Nepalese Adult Anish Hirachan, 1 * Bishal K.C, 1 Arun Maskey, 2 Madhu Roka, 2 Gopi Prasad Hirachan 3 1 Department of Cardiology, NAMS, Kathmandu, Nepal, 2 Department of Cardiology, Sahid Gangalal National Heart Centre, Kathmandu, Nepal 3 Department of Cardiology, Gandaki Medical College, Pokhara, Nepal DOI Name htup://dx.doi.org/10.3126/jaim.v7i1.19580 Keywords Ellis van Creveld syndrome , narrow thorax , chondrodystrophy AbstrAct Citatjon Anish Hirachan, Bishal K.C, Arun Maskey, Madhu Ellis Van Creveld syndrome (EVC) is a rare genetjc disorder having autoso - Roka, Gopi Prasad Hirachan. Late presentatjon of mal recessive inheritance characterized by chondrodystrophy, polydactyly, ec - Ellis van Creveld Syndrome with Common atrium anomaly: A case report in a Nepalese Adult. Journal todermal dysplasia, and various cardiac anomalies. Acromelic shortening of of Advances in Internal Medicine 2017;06(01):26- upper and lower limbs, genu valgum, deformed teeth, short ribs and narrow 29. thorax and other systemic anomalies complete the picture of this syndrome. The patjents with the syndrome rarely survive into adulthood. Here, we report a 30 year old male with EVC presentjng for the fjrst tjme in middle age with This work is licensed under a Creatjve Commons Common atrium anomaly . IntroductIon cardiac evaluatjon and remained on the same treatment for several years . This admission, he presented with history Ellis van Creveld syndrome (EVC) is a rare genetjc disorder of progressive breathlessness for 15 days with associated with disproportjonate dwarfjsm characterized by postaxial orthopnea and paroxysmal nocturnal dyspnea for the same polydactyly, several skeletal, oral mucosal and dental duratjon . He also developed progressive abdominal swelling anomalies, nail dysplasia and presence of congenital cardiac and swelling of both limbs for 10 days duratjon along with defects. The syndrome, also known as chondroectodermal increased bluish discoloratjon of his face and hands and feet . dysplasia, is an autosomal recessive disorder with mutatjons of the EVC-1 and EVC-2 genes located on chromosome 4P16. 1 On examinatjon, he had a short stature of 130 cm and weight of 36 kg . His examinatjon revealed six digits in each hand The fjrst full descriptjon of the syndrome was given by Richard Ellis and Simon Van Creveld in 1940. 2 A large number of cases ( X-rays as shown in Fig. 1 and 2). The distal and middle segments of hands and feet were short . Clinodactyly of fjfuh have been reported in the Amish Community of Lancaster, Pennsylvania, USA, by McKuisk in 1964. 3 Here, we report fjngers were present along with dystrophic and hypoplastjc nails . (Fig 2) . There was widened space between hallux and a case of EVC who presented for the fjrst tjme at 30 years of the rest of the toes as well as genu valgum being present (Fig age . 3) . His oromaxillary examinatjon revealed defjcient muco - buccal fold with ankyloglossia and dental malocclusion defects Case Report : (Fig4) The patjent did his schooling tjll 10 th standard but had normal psychomotor and cognitjve development. . He was 30 year old male presented with progressive shortness of cyanosed (oxygen saturatjon ~80%) at room air . The jugular breath since adolescence (Class- II- III NYHA) for which he was evaluated at a primary care centre . There was no history * Corresponding author of consanguity in parents. There was no detail documents Anish Hirachan available, however he was evaluated in a primary health Department of Cardiology NAMS, Kathmandu, Nepal centre and was prescribed with diuretjcs without detailed JAIM | volume 07 | number 01 | issue 13 | January - June 2018 page 26

Bishal K.C, et al. Late presentatjon of Ellis van Creveld Syndrome | Case Report venous pulse (JVP) was elevated with prominent ‘a’ wave. The patjent had long and narrow appearing thorax with a precordial bulge. There was cardiomegaly, with apex beat at lefu 6th intercostal space, 4cm lateral to the mid- clavicular line. Grade III/III lefu parasternal heave was present. The fjrst heart sound was loud; the second sound was widely split and fjxed. The pulmonary component was loud. There was a grade 3/6 pansystolic murmur with inspiratory accentuatjon audible at lefu lower sternal border. Chest X-ray revealed cardiomegaly with right atrial enlargement while his ECG revealed normal P wave axis and right axis deviatjon , p’ pulmonale with RVH . His echocardiographic examinatjon revealed situs solitus ,enlarged right ventricle and a common atrial chamber without any interatrial septum (Fig. 5) . The right and lefu components of the common AV valves were at the same place with evidence of regurgitatjon through both the components of the valve. Fig 3 : Limb deformity with genu valgum, talipus equinovarus There was evidence of pulmonary arterial hypertension (PAH) in the form of right ventriculo- atrial gradient of 89 mm Hg . A diagnosis of common atrium anomaly with severe PAH was made. Fig 4 : Oromaxillary defect with dental malocclusion, ankyloglossia Fig : 1 Polydactyly Fig 2 : Polydactyly with nail dystrophy Fig 5 : Common atrium defect with TR jet and PAH JAIM | volume 07 | number 01 | issue 13 | January - June 2018 page 27